Your DNA Results Indicate: Super Celiac! By Scott Adams

Scott Adams

In 1994 I was diagnosed with celiac disease, which led me to create Celiac.com in 1995. I created this site for a single purpose: To help as many people as possible with celiac disease get diagnosed so they can begin to live happy, healthy gluten-free lives. Celiac.com was the first site on the Internet dedicated solely to celiac disease. In 1998 I foundedÂ The Gluten-Free Mall, Your Special Diet Superstore!, and I am the co-author of the book Cereal Killers, and founder and publisher of Journal of Gluten Sensitivity.

Celiac.com 10/27/2004 - I recently decided to have my DNA and that
of my son screened for the genetic markers, also known as HLAalleles,
which make celiac disease possible. Both my mother and I have long since
been diagnosed with the disease, so I naturally worry that my son Spencer
may also end up with it at some point in his life. Even though he has
been mostly symptom-free for his entire life—all three and a half years
of it—last year I subjected him to serological screening after he had
a several week bout with diarrhea. We were happy to discover that he
did not have it, but I still knew that such tests could not rule the
disease out of his future. Even so, it was nice to learn that he did
not have the active disease, although a blood draw at two years of age
was not exactly a pleasant experience for him—or for his parents! I
swore then that I would try to avoid any unnecessary blood draws in
the future, even though I knew that it might still be necessary from
time to time—unless he somehow did not inherit the genetic markers for
it—the idea of which led me to my decision to have Spencers DNA screened
for celiac disease.

After mentioning my plans for the DNA screening at a
family dinner, my brother also grew interested, as he too has had unexplained
symptoms and a recent negative celiac disease antibody panel and biopsy.
He too felt that it would be nice to find out once and for all if this
was something that he was going to have to worry about in the future.
He also pointed out to me that genetic screening had the potential to
save him money over the long haul, since the test is only necessary once
in a lifetime. Periodic antibody screening for the disease can prove to
be quite expensive, and a negative DNA test would effectively rule out
the necessity of any future testing. After we finished our dinner that
evening I sat down with my brother and we reviewed several offerings on
the Internet by companies who provide genetic services for celiac disease,
and were particularly impressed by one of them—Kimball Genetics,
located in Denver, Colorado, as their DNA collection method did not require
a blood draw and instead employed a simple and painless cheek cell collection
using a swab.

The next day I telephoned Kimball Genetics and was connected
with a very knowledgeable genetic counselor. After a discussion with her
about my familys history I decided to order three celiac disease
genetic tests, one each for my son, my brother, and myself. I requested
three cheek cell collection kits to be sent to my home, where the samples
would be collected and sent back to Kimball Genetics for testing. For
individuals the cost of a kit is 10% off of $325, or $292.50 per test,
and they offer a 20% family discount for testing additional family members,
which brings the per test price down to $260. Kimball Genetics also offers
assistance with billing your health insurance company, which can often
result in the recovery of all or part of the costs incurred for the tests.
This includes detailed help with the forms, insurance CPT codes for the
procedure, as well as obtaining the ICD9 codes, which are the diagnostic
and symptom codes that come from your doctor. At this point I realized
that to get reimbursed for the tests a person should first make an appointment
with their doctor, and ideally this appointment should take place before
actually ordering a test kit. This will ensure that you and your doctor
are on the same page regarding the importance and necessity of the genetic
tests.

The cheek cell collection kits arrived in the mail within
a couple of days, and I phoned my brother to arrange a "DNA collection
party" at my house. On collection day we opened the kits to find
enclosed two brushes for sample collection, a Test Request Form, a consent
form, medical literature regarding Kimball Genetics DNA screening test
for celiac disease, and detailed instructions that outlined how to properly
collect and mail the samples. The kits also included a stamped return
envelope that was pre-addressed to their laboratory. The Test Request
Form included an area where one could enter their credit card information,
and this form along with the consent form and a check or card information
were required to be sent along with the sample in the return envelope.

The medical literature included with the kits comprised
of a three page document titled "Celiac Disease DNA Test." The following
two sections, which I found to be particularly helpful, are reproduced
below from this document, which is also available on their Web site www.kimballgenetics.com:

The sample collection went very smoothly for each of
us, and Spencer found it to be slightly more annoying than having to brush
his teeth. We each rinsed our mouths out with water beforehand, and then
rolled one brush at a time 20 times over the entire inside surface area
of one check, and then did the same on the other cheek with the second
brush. We let the samples dry for 30 minutes, and then put everything
in their respective packages and envelopes along with the filled out paper
work. Our final step was to put them out for the Mail Carrier to pick
up. Their literature promised a 3-4 day turn around, and sure enough,
both my brother and I got a call from someone at Kimball Genetics several
days later who needed our doctors fax numbers, which we had forgotten
to include on the paperwork. Once they had this information, a call to
our doctors was all that was necessary to have our doctors forward the
results directly to us by fax, and we also received the original reports
by mail. Amazingly the Celiac Disease DNA Test at Kimball Genetics takes
just one business day from the day the lab receives the sample (if it
arrives by noon) to reporting of results.

I have to admit that besides hoping that my son did not
inherit the genetic makeup that makes celiac disease possible—as
the results were printing out from my fax machine—I still held out
the very slight hope that they had not found the markers in my genetic
sample, and that my whole diagnosis was some sort of big mistake. This
hope was quickly crushed as the report indicated that I was in fact part
of an elite genetic group—one that carries both markers for celiac
disease: DQ2 and DQ8—which I later discovered meant that I inherited
genetic traits for celiac disease from both of my parents, rather than
just from my mother, which was my original assumption. My father is no
longer alive, but after discussing his results with my mother we decided
that it is possible that he also had undiagnosed celiac disease, and it
is interesting to note that he had diabetes.

I couldnt help but think that my results make
me something like a "Super Celiac," although the genetic counselor
at Kimball Genetics reassured me that having both markers for it doesnt
necessarily mean that the disease will present itself any differently.
Spencer turned out to be positive for DQ2, and my brother found out that
he too tested positive for both DQ2 and DQ8. On the down side their results
indicate that they will need to watch out for any future signs of the
disease for the rest of their lives, and probably get screened for it
from time to time. On the up side there is still only a small chance that
either will ever develop the disease, and at least we will know to watch
for its symptoms in the future, which likely would lead to a quick diagnosis
and treatment should one of them ever get it.

Ultimately anyone who decides to undergo genetic screening
must be comfortable with the results—positive or negative. I advocate
testing because I believe in the saying that knowledge is power, and that
it is better to know than not to know—especially when it comes to
your health. Unlike other testing methods, genetic screening for celiac
disease has the amazing potential to reveal whether someone has been misdiagnosed
with the disease, even though the odds for such a scenario are small.
It also can confirm a diagnosis, or let relatives of celiacs know that
they do or dont need to worry about it in the future. My mother
felt vindicated by our results, as they indicated that she wasnt
the only person who passed celiac genes to her children—my father
did too. Who knows, your genetic results may even have the potential to
elevate your celiac status, as it did in my case, to that of—Super
Celiac!

I work for a hospital that offered complete genome testing for $100. Since my mom is adopted, I jumped at the opportunity. I didn't pay much attention to my increased risk for celiac in the results. I have always had stomach issues, as did my mom. Belly aches and diarrhea are "normal" for us. I recently had a terrible bout of gastric pain and my doctor did some routine blood work and ct scan that all showed normal results. I felt like some kind of hypochondriac, so I dropped the issue. Eventually, I got back to "normal." Some time later I was looking at my genetic test again and started looking into celiac disease. My doctor has pretty much ignored my requests to look into this. My mom has been diagnosed with IBS and she got type I diabetes from an autoimmune attack. One of my sons also exhibits the same "normal" GI problems as myself and my mom. I went to a different doctor to have blood tests for celiac, and I am still awaiting the results. I am almost hoping I have celiac because this could be the answer to my GI issues, my migraines, and my allergies, though I find the prospect of living without bread and pasta almost unimaginable.

This is a good article. Thank you. If my results are +, I'll be spending a lot of time on your site.